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- Effective treatment of severe thermodysregulation by oral retinoids...
SummaryIchthyoses are a heterogenous group of keratinization disorders, which are often associated with hypohidrosis. - Self-healing collodion membrane and mild nonbullous congenital...
...forms of autosomal recessive congenital ichthyoses, including nonbullous congenital ichthyosiform erythroderma (NCIE), lamellar ichthyosis (LI... - [Thematic Reviews] Thematic review series: Skin Lipids. Pathogenesis...
...in recessive X-linked ichthyosis (RXLI), cholesterol sulfate (CSO ... 4 ) accumulation also produces a permeability barrier defect through... - OBSERVATION: Self-Healing Collodion Membrane and Mild Nonbullous...
...forms of autosomal recessive congenital ichthyoses, including nonbullous congenital ichthyosiform erythroderma (NCIE), lamellar ichthyosis (LI... - OBSERVATION: Defective Lamellar Granule Secretion in Arthrogryposis,...
...fatal metabolic autosomal recessive disorder ... deficiency results in abnormal secretion of lamellar granules, which underlies ichthyosis in... - 83 - eponyms in medicine - (501to1000)
501 - Gaucher’s disease is autosomal recessive sphingolipidosis (sulfatidose) - mutations in glucocerebrosidase gene on 1q21 (also known as acid - Pathogenesis of permeability barrier abnormalities in the...
...in recessive X-linked ichthyosis (RXLI), cholesterol sulfate accumulation also produces a permeability barrier defect through lamellar/non... - [Original articles] Congenital ichthyosis: mutations in ichthyin are...
Background: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of skin disorders. ... microscopy (EM) were abnormal lamellar